TH V108M - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

TH V108M

(TH Val108Met)


Short summary

 

Variant evidence
Computational 1

Variant Effect Predictor (Ensembl ):
SIFT=tolerated(0.13);
PolyPhen=benign(0.001);
Condel=deleterious(0.843)
Mutation Tasting Prediction: Polymorphism p value: 0.919944; protein features (might be) affected
GVGD: GV 28.68; GD 0.00; Class C0
Multi-alignment of lcl|68234 gi|88900505|ref|NP_954987.2| tyrosine 3-monooxygenase isoform c [Homo sapiens] with: XP_002821422.1 [Pongo abelii] XP_508221.3 [Pan troglodytes] XP_003312902.1 [Pan troglodytes] XP_003312903.1 [Pan troglodytes] XP_003281404.1 [Nomascus leucogenys] XP_002799487.1 [Macaca mulatta] XP_002821421.1 [Pongo abelii] NP_036872.1 [Rattus norvegicus] ADN07475.1 [Microtus ochrogaster] XP_855547.1 [Canis familiaris]

Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Total cases/controls case+ case– control+ control– p-value odds ratio
Tyrosine Hydroxylase Deficiency
0 0 0 0 - -

 

Allele frequency

  • T @ chr11:2190951: 29.0% (3114/10756) in EVS
  • Frequency shown in summary reports: 29.0% (3114/10756)

Publications
 

Anney RJ, Olsson CA, Lotfi-Miri M, Patton GC, Williamson R. Nicotine dependence in a prospective population-based study of adolescents: the protective role of a functional tyrosine hydroxylase polymorphism. Pharmacogenetics. 2004 Feb;14(2):73-81. PubMed PMID: 15077008.

 

Wang L, Li B, Lu X, Zhao Q, Li Y, Ge D, Li H, Zhang P, Chen S, Chen R, Qiang B, Gu D. A functional intronic variant in the tyrosine hydroxylase (TH) gene confers risk of essential hypertension in the Northern Chinese Han population. Clin Sci (Lond). 2008 Sep;115(5):151-8. doi: 10.1042/CS20070335. PubMed PMID: 18208403.

 

Giegling I, Moreno-De-Luca D, Calati R, Hartmann AM, Möller HJ, De Ronchi D, Rujescu D, Serretti A. Tyrosine hydroxylase and DOPA decarboxylase gene variants in personality traits. Neuropsychobiology. 2009;59(1):23-7. doi: 10.1159/000202826. Epub 2009 Feb 17. PubMed PMID: 19221445.

 

Cases/controls case+ case– control+ control– p-value odds ratio
Tyrosine Hydroxylase Deficiency
0 - 0 - - -

 

Corominas R, Ribases M, Camiña M, Cuenca-León E, Pardo J, Boronat S, Sobrido MJ, Cormand B, Macaya A. Two-stage case-control association study of dopamine-related genes and migraine. BMC Med Genet. 2009 Sep 21;10:95. doi: 10.1186/1471-2350-10-95. PubMed PMID: 19772578; PubMed Central PMCID: PMC2758864.

.

Srivastava V, Deshpande SN, Thelma BK. Dopaminergic pathway gene polymorphisms and genetic susceptibility to schizophrenia among north Indians. Neuropsychobiology. 2010;61(2):64-70. doi: 10.1159/000265131. Epub 2009 Dec 12. PubMed PMID: 20016224.

.

Genomes
 

 

 

 

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom T @ chr11:2190951

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr11:2190951

 

hu728FFF - PGP11 (hu728FFF) build 36, substitution variants
hom T @ chr11:2147527

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr11:2190951

 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr11:2190951

 

 

 

 

 

Other external references
 

    dbSNP
  • rs6356
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the TH gene
    Tyrosine Hydroxylase Deficiency
    Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TH
    Web search results (30 hits -- see all)
  • Using Hierarchical Modeling in Genetic Association Studies ...
    transferase (COMT ) V108M , manganese superoxide. dismutase (MnSOD) ... a þ XZk þ X y þ W g. ðEÞ. Application of Hierarchical Modeling to the Case- Control Study. ...
    life.fudan.edu.cn/.../sciarticle/Path_analysis_CEBP_2004.pdf
  • Dynameomics - Related Publications
    Key J, Scheuermann TH, Anderson PC, Daggett V, and Gardner KH. ... inactivation: The A22S and V108M polymorphisms individually destabilize the active site structure of catechol ...
    www.dynameomics.org/external/Publications/index.aspx
  • Sensory Rhodopsin II from the Haloalkaliphilic ...
    Mu"ller, K.-H., and Th. Plesser. 1991. Variance reduction by ... V108M mutant. of pharaonis phoborhodopsin: substitution caused no absorption change. but ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Probing the Proton Channel and the Retinal Binding Site of ...
    V108M/M109I/F127W/G103S/A131T/F134M/T204A-NpSRII) was ex- pressed and purified as ... Mu"ller, K.-H. and Th. Plesser. 1991. Variance reduction by simultaneous. multi ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Reconciling the "old" and "new" views of protein allostery: A ...
    Department of Chemistry and Theoretical Chemistry Institute, University of Wisconsin, ... The V108M mutation showed similar results as. the A90V study, confirming that Val108 does ...
    www.chem.wisc.edu/~cui/pdf_fls/chey_69.pdf
  • Measured Vehicle Inertial Parameters
    th. International Symposium on Automotive. Technology and Automation, ISATA Paper 94SF034, ... 1.715. 1.689. 1.80. 19652. F. 1987. Ford. F150. V108M. 4. PU. 0. 0. R. 2.959. 1.657 ...
    www.not2fast.com/chassis/sae1999-01-1336.pdf
  • References - methyltransferase - HORT640 - Metabolic Plant ...
    Chen TH, Murata N. Enhancement of tolerance of abiotic stress by ... Huennekens FM, Duffy TH, Vitols KS. Folic acid metabolism and its disruption by ...
    www.hort.purdue.edu/rhodcv/hort640c/referen/metransf.htm
  • Refereed Publications Resulting from Use of NERSC Resources
    On their Allocation Year 2010 ERCAP Request Forms Principal Investigators ... H. Liu, K. Sale, B. Holmes, B. A. Simmons and S. Singh,, "Understanding the ...
    www.nersc.gov/projects/reports/ERCAPpubs09.php
  • SAMe, Primary Sclerosing Cholangitis Literature
    Liu CC, Ho WY, Leu KL, Tsai HM, Yang TH. Effects of S-adenosylhomocysteine and homocysteine on DNA damage and ... the A22S and V108M polymorphisms individually destabilize the ...
    www.psc-literature.org/SAMe.htm
  • References - S-methyl or S-adenosyl - HORT640 - Metabolic ...
    Betaine, a promising new agent for patients with nonalcoholic steatohepatitis: ... Chen TH, Murata N. Enhancement of tolerance of abiotic stress by metabolic ...
    www.hort.purdue.edu/rhodcv/hort640c/referen/smsa.htm

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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